An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease

An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease
Mov Disord. 2021 May 2. doi: 10.1002/mds.28495. Online ahead of print.ABSTRACTAdenylyl cyclase 5 (ADCY5)-related phenotypes comprise an expanding disease continuum, but much remains to be understood about the underlying pathogenic mechanisms of the disease. ADCY5-related disease comprises a spectrum of hyperkinetic disorders involving chorea, myoclonus, and/or dystonia, often with paroxysmal exacerbations. Hypotonia, developmental delay, and intellectual disability may be present. ... read more
Source: PubMedPublished on 2021-05-02By Arianna Ferrini